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Glanzmann's Thrombasthenia: Working Through Cultural Barriers

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Glanzmann's Thrombasthenia: Working Through Cultural Barriers J Haem Pract 2016 3(2). doi:10.17225/jhp00088 CASE STUDY Glanzmann’s thrombasthenia: Working through cultural barriers Colleen Tapia, Maria Tovar-Herrera Glanzmann’s thrombasthenia is a rare autosomal recessive bleeding syndrome characterised by a lack of platelet aggregation. This case study considers a young woman affected by this disease, integrating the role her culture plays in her medical management. Fatima (patient renamed for the purposes of this case study) is a 16-year-old girl with Glanzmann’s thrombasthenia and heterozygous factor XIII deficiency, complicated by menorrhagia and a history of packed red blood cell (PRBC) transfusion for symptomatic anemia, with subsequent development of red blood cell (RBC) antibodies. Management has included years of working on hormone control, as well as dealing with the side-effects of such treatment, and starting NovoSeven (Novo Nordisk) recombinant factor VII infusions along with factor XIII replacement (Corifact; CSL Behring) via the use of a peripherally inserted central catheter (PICC), following set-backs related to hormone control. Glanzmann’s thrombasthenia had its first true ©Shutterstock Inc. impact on Fatima at the onset of her menstrual cycle, just prior to the start of her teenage years. Her first menstrual aggregation [1]. Mucocutaneous bleeding with absent cycle resulted in her admission to the intensive care unit platelet aggregation, in the presence of a normal platelet (ICU), where emergency measures were required to save count is diagnostic for this condition [1]. Treatment is usually her life. When options to help Fatima began to diminish, through platelet transfusion, however the severe onset of Corifact was initiated to correct her factor XIII deficiency, menorrhagia for women is a frequent clinical problem and thus allowing the cross-linking of fibrin to form a more is treated with high doses of progesterone [1]. Pregnancy, stable clot. Fatima is Arab American of Palestinian descent. especially the delivery, accounts for severe haemorrhagic She has undergone HLA testing and evaluation for bone risk; requiring platelet transfusion prior to delivery and often marrow transplant, however no matches have been continuing for at least seven days [1]. Careful consideration identified to date. The family has had another child with should be used to avoid platelet anti-HLA alloimmunisation, intention of saving cord blood, but Fatima’s transplant causing the patient to become refractory to further platelet team has determined that better matches are likely to transfusion [1]. be found in unrelated donors. Pregnancy for Fatima is very high risk and believed to be life-threatening for her, Presentation which plays a very significant role in her life as a young Fatima is a 16-year-old girl with Glanzmann’s thrombasthenia Arab American woman. and heterozygous factor XIII deficiency, complicated by menorrhagia and history of PRBC transfusion for Keywords: Glanzmann’s Thrombasthenia, menorrhagia, symptomatic anemia, with subsequent development of RBC heterozygous factor XIII deficiency, culture, bleeding antibodies. Glanzmann’s thrombasthenia had its first true impact on Fatima at the onset of her menstrual cycle, just Glanzmann’s thrombasthenia is a rare autosomal recessive prior to the start of her teenage years. Her first menstrual bleeding syndrome characterised by a lack of platelet cycle resulted in her admission to the intensive care unit (ICU), where emergency measures were required to save Colleen Tapia, RN, BSN, CPN, Rush University Medical Center Hemophilia her life. Recently (since last summer), she has experienced and Thrombophilia Center, Chicago, US. Email: [email protected] increased menstrual bleeding; she was admitted recently for a blood transfusion along with IV oestrogen due to Maria Tovar-Herrera, RN, BSN, Rush University Medical Center uncontrolled dysfunctional uterine bleeding causing Hemophilia and Thrombophilia Center, Chicago, US. symptomatic anaemia. The bleeding improved prior to Email: [email protected] www.haemjournal.com 1 discharge; however, once discharged the bleeding returned professional Arab males [2]. Fatima’s mother found that she along with the passing of abnormally large clots from the had difficulty when attempting to explain the gravity of her uterus. When options to help Fatima began to diminish, daughter’s situation to the Palestinian medical team, and in Corifact (factor XIII; CSL Behring) was initiated to correct a desperate attempt to be heard so that Fatima’s menstrual her factor XIII deficiency, thus allowing the cross-linking of bleeding did not progress any further, she contacted the fibrin to form a more stable clot. medical team who care for her in the United States. In the Fatima is Arab American of Palestinian descent. She meantime, this delay, caused by a cultural barrier, could currently resides with her parents and four siblings: a have put Fatima’s life at risk. Luckily, the medical team in 14-year-old-brother (who also has Glanzmann’s but is the US were able to speak directly with the medical team in essentially asymptomatic), 12-year-old brother, 9-year- Palestine and Fatima returned home safely. old sister and 4-year-old brother. Fatima has undergone HLA testing and evaluation for bone marrow transplant, Discussion however no matches have been identified to date. The Questions surrounding this case include the care of this family had Fatima’s 4-year-old brother, with the intention particular patient in a culturally sensitive way in order of saving his cord blood for transplant; unfortunately, the to maintain her compliance with the current treatment cord blood was determined to not be a match. Fatima’s regimen. How can the medical team manage this patient transplant team has determined that better matches are should she decide to marry and want to bear children? more likely to be found in unrelated donors, but ethnicity On one occasion, Fatima stopped taking the hormone is an issue, making this very difficult to rely on as a cure in therapy due to side-effects and as a consequence, was this particular case. admitted to the ICU with severe haemorrhage associated The idea that pregnancy is very high risk, to the extent of with menorrhagia. With this in mind, how will the medical being life-threatening for Fatima, is unbearable for both team approach the family about Fatima’s ability to come herself and her family to comprehend. In Arabic culture, it is off of hormone therapy in order to conceive? How can her common for women marry at a young age, often planning culture be respected during such conversation? to bear children very soon afterwards in order to establish Throughout her care, the family has shared with our team a family. that no diagnostic information is shared about Fatima within their community or among friends and/or extended Management and outcome family, in an effort to avoid her being perceived as not a Fatima comes to the outpatient clinic for infusions “good catch” for a prospective husband in the future. In the of NovoSeven in addition to continuing her monthly absence of knowing about her severe medical condition, Corifact infusions, which has assisted in slowing down her how will this affect critical conversations that need to occur menstruation . Currently, during her menses, she describes between Fatima and her future husband should they want passing clots several times per day, but experiences minimal to conceive? The medical team caring for Fatima want her bleeding between these times and uses only two sanitary to live a life that fulfils her dreams and desires. How can this pads per day. She continues to feel fatigued and experiences be done successfully without potentially putting her life at occasional dizziness upon standing, but reports having no serious risk? headaches and states that, overall, she feels much better. In addition to Corifact, NovoSeven infusions, and platelet Acknowledgements infusions as needed, she now has up to four hormone The authors wish to thank Mindy Simpson, MD and Lucy pills per day and is followed closely by a gynaecologist Ramirez, MSW, LCSW, for their input and review of this case for hormonal management. Treatment, in particular the study. hormone therapy, will be lifelong, as discontinuation poses a life-threatening risk of haemorrhage. Disclosures Fatima’s medical management has been directly impacted The authors have advised no interests that may be perceived by her culture on a number of occasions. For example, as posing a conflict or bias. the family prefers that she is not seen by male physicians, especially when hospitalised, as this is generally not This is an Open Access article distributed under the terms culturally acceptable to them. A recent occasion where of the Creative Commons Attribution License (http:// creativecommons.org/licenses/by/2.0), which permits cultural barriers caused problems with Fatima’s medical unrestricted use, distribution and reproduction in any care occurred when she went on a month-long vacation to medium, provided the original work is properly cited. Palestine. She travelled with Corifact, NovoSeven, and her hormone therapy in an effort to be sure her medication was References immediately available. Fatima experienced a very severe 1. Nurden AT. Glanzmann thrombasthenia. Orphanet J Rare Dis 2006; 1: case of menorrhagia while there and was hospitalized, 10. doi: 10.1186/1750-1172-1-10. requiring a blood transfusion for a haemoglobin level 2. Al Alhareth Y, Al Alhareth Y, Al Dighrir I. Review of women and society in that had dropped to 5. Typically, within Arabic culture, Saudi Arabia. American Journal of Educational Research 2015; 3(2): 121-5. women are not respected to have knowledge and, as a doi: 10.12691/education-3-2-3. result, are frequently not heard or listened to, especially by www.haemjournal.com 2.
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